TBX2 Chromosome 17
T-box transcription factor 2
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What This Gene Does
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
T-box transcription factors
Locus Type
gene with protein product
Location
17q23.2
Ensembl
ENSG00000121068
Associated Conditions (2)
Vertebral anomalies and variable endocrine and T-cell dysfunction
TBX2-related disorder
Key Variants
RS2143731708
Conflicting classifications of pathogenicity
Vertebral anomalies and variable endocrine and T-cell dysfunction, TBX2-related disorder, Vertebral anomalies and variable endocrine and T-cell dysfunction
Health Risk
RS1603241575
Likely pathogenic
TBX2-related disorder, TBX2-related disorder
Health Risk
RS2060258573
Likely pathogenic
Vertebral anomalies and variable endocrine and T-cell dysfunction, Vertebral anomalies and variable endocrine and T-cell dysfunction
Health Risk
RS2509518787
Likely pathogenic
Vertebral anomalies and variable endocrine and T-cell dysfunction, Vertebral anomalies and variable endocrine and T-cell dysfunction
Health Risk
RS1364709483
Pathogenic/Likely pathogenic
TBX2-related disorder, Vertebral anomalies and variable endocrine and T-cell dysfunction, TBX2-related disorder
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2143731708 | Health Risk | Conflicting classifications of pathogenicity | Vertebral anomalies and variable endocrine and T-cell dysfunction, TBX2-related disorder, Vertebral anomalies and variable endocrine and T-cell dysfunction |
| RS1603241575 | Health Risk | Likely pathogenic | TBX2-related disorder, TBX2-related disorder |
| RS2060258573 | Health Risk | Likely pathogenic | Vertebral anomalies and variable endocrine and T-cell dysfunction, Vertebral anomalies and variable endocrine and T-cell dysfunction |
| RS2509518787 | Health Risk | Likely pathogenic | Vertebral anomalies and variable endocrine and T-cell dysfunction, Vertebral anomalies and variable endocrine and T-cell dysfunction |
| RS1364709483 | Health Risk | Pathogenic/Likely pathogenic | TBX2-related disorder, Vertebral anomalies and variable endocrine and T-cell dysfunction, TBX2-related disorder |